Variant report

Variant	rs3747478
Chromosome Location	chr15:74726453-74726454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr15:74725883-74726632	K562	blood:	n/a	chr15:74726063-74726078 chr15:74725950-74725965
2	E2F4	chr15:74725997-74727183	K562	blood:	n/a	chr15:74726516-74726526
3	MYC	chr15:74725816-74726630	K562	blood:	n/a	n/a
4	PML	chr15:74725923-74726830	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:74725952-74727569	K562	blood:	n/a	n/a
6	MAZ	chr15:74725759-74727071	K562	blood:	n/a	chr15:74725782-74725792
7	POLR2A	chr15:74725969-74726462	PANC-1	pancreas:	n/a	n/a
8	RUNX3	chr15:74725738-74726944	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:74726018-74726645	GM12891	blood:	n/a	n/a
10	BATF	chr15:74726148-74726611	GM12878	blood:	n/a	n/a
11	PAX5	chr15:74726010-74726521	GM12891	blood:	n/a	chr15:74726392-74726410 chr15:74726329-74726348
12	POLR2A	chr15:74725939-74726687	K562	blood:	n/a	n/a
13	POLR2A	chr15:74726079-74726519	H1-hESC	embryonic stem cell:	n/a	n/a
14	RELA	chr15:74725893-74726833	GM12891	blood:	n/a	chr15:74726472-74726481 chr15:74726472-74726481
15	ATF2	chr15:74725996-74726787	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:74725871-74726701	GM12891	blood:	n/a	n/a
17	CEBPB	chr15:74726217-74726862	GM12878	blood:	n/a	n/a
18	MAX	chr15:74725828-74726618	NB4	blood:	n/a	n/a
19	PAX5	chr15:74726027-74726523	GM12892	blood:	n/a	chr15:74726392-74726410 chr15:74726329-74726348
20	ZBTB7A	chr15:74724839-74726511	ECC-1	luminal epithelium:	n/a	n/a
21	PML	chr15:74726359-74726540	GM12878	blood:	n/a	n/a
22	CHD2	chr15:74726365-74726566	H1-hESC	embryonic stem cell:	n/a	chr15:74726366-74726376
23	POLR2A	chr15:74725777-74726562	GM12878	blood:	n/a	n/a
24	TCF12	chr15:74725988-74726609	GM12878	blood:	n/a	chr15:74726516-74726526
25	RCOR1	chr15:74726109-74727135	K562	blood:	n/a	n/a
26	POLR2A	chr15:74725745-74726768	GM19099	blood:	n/a	n/a
27	POLR2A	chr15:74722787-74726690	GM18951	blood:	n/a	n/a
28	POLR2A	chr15:74725751-74727056	GM19193	blood:	n/a	n/a
29	MAX	chr15:74725883-74726683	K562	blood:	n/a	n/a
30	MAZ	chr15:74725330-74727120	IMR90	lung:	n/a	chr15:74725417-74725424 chr15:74725416-74725425 chr15:74725782-74725792 chr15:74725416-74725425
31	POLR2A	chr15:74725690-74726848	GM18505	blood:	n/a	n/a
32	POLR2A	chr15:74725785-74726774	ProgFib	skin:	n/a	n/a
33	TCF3	chr15:74725881-74726469	GM12878	blood:	n/a	n/a
34	RUNX3	chr15:74725768-74726842	GM12878	blood:	n/a	n/a
35	TBP	chr15:74725872-74726926	K562	blood:	n/a	n/a
36	EP300	chr15:74726031-74726643	K562	blood:	n/a	chr15:74726303-74726319 chr15:74726060-74726076 chr15:74726550-74726563 chr15:74726069-74726078 chr15:74726304-74726320
37	POLR2A	chr15:74725767-74726778	GM12878	blood:	n/a	n/a
38	TAF7	chr15:74726006-74726604	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF263	chr15:74725982-74727215	HEK293-T-REx	kidney:	n/a	n/a
40	IRF1	chr15:74726131-74726546	K562	blood:	n/a	chr15:74726335-74726349 chr15:74726362-74726376 chr15:74726357-74726371 chr15:74726369-74726383
41	NFATC1	chr15:74726051-74726525	GM12878	blood:	n/a	n/a
42	MTA3	chr15:74726321-74726800	GM12878	blood:	n/a	n/a
43	EP300	chr15:74726164-74726588	GM12878	blood:	n/a	chr15:74726303-74726319 chr15:74726550-74726563 chr15:74726304-74726320
44	POLR2A	chr15:74725909-74726747	GM12891	blood:	n/a	n/a
45	ETS1	chr15:74725971-74726491	GM12878	blood:	n/a	chr15:74726366-74726377
46	EBF1	chr15:74726053-74726722	GM12878	blood:	n/a	n/a
47	RELA	chr15:74725917-74726729	GM19099	blood:	n/a	chr15:74726472-74726481 chr15:74726472-74726481
48	HEY1	chr15:74725965-74726572	HepG2	liver:	n/a	chr15:74726063-74726078
49	MAX	chr15:74726128-74726484	K562	blood:	n/a	n/a
50	GABPA	chr15:74725718-74726469	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:74726423-74726473	Jurkat	blood:	n/a
2	chr15:74726423-74726473	SK-N-SH	brain:	n/a
3	chr15:74726423-74726473	A549	lung:	n/a
4	chr15:74726423-74726473	SK-N-SH_RA	brain:	n/a
5	chr15:74726423-74726473	GM06990	blood:	n/a
6	chr15:74726423-74726473	GM12878	blood:	n/a
7	chr15:74726423-74726473	HEK293	kidney:	embryo
8	chr15:74726423-74726473	HCM	heart:	n/a
9	chr15:74726423-74726473	NH-A	brain:	n/a
10	chr15:74726423-74726473	HRCEpiC	kidney:	n/a
11	chr15:74726423-74726473	ovcar-3	ovarian:	n/a
12	chr15:74726423-74726473	BE2_C	brain:	n/a
13	chr15:74726423-74726473	SAEC	small airway:	n/a
14	chr15:74726423-74726473	SK-N-MC	brain:	n/a
15	chr15:74726423-74726473	ProgFib	skin:	n/a
16	chr15:74726423-74726473	GM12891	blood:	n/a
17	chr15:74726423-74726473	CMK	blood:	n/a
18	chr15:74726423-74726473	PFSK-1	brain:	n/a
19	chr15:74726423-74726473	H1-hESC	embryonic stem cell:	embryo
20	chr15:74726423-74726473	HepG2	liver:	n/a
21	chr15:74726423-74726473	PANC-1	pancreas:	n/a
22	chr15:74726423-74726473	HPAEpiC	pulmonary alveolar:	n/a
23	chr15:74726423-74726473	SKMC	muscle:	n/a
24	chr15:74726423-74726473	NT2-D1	testis:	n/a
25	chr15:74726423-74726473	HL-60	blood:	n/a
26	chr15:74726423-74726473	NHBE	bronchial:	n/a
27	chr15:74726423-74726473	GM12892	blood:	n/a
28	chr15:74726423-74726473	LNCaP	prostate:	n/a
29	chr15:74726423-74726473	AG04449	skin:	fetal
30	chr15:74726423-74726473	MCF-7	breast:	n/a
31	chr15:74726423-74726473	HMEC	breast:	n/a
32	chr15:74726423-74726473	HCT-116	colon:	n/a
33	chr15:74726423-74726473	MCF10A-Er-Src	breast:	n/a
34	chr15:74726423-74726473	AoSMC	blood vessel:	n/a
35	chr15:74726423-74726473	HRPEpiC	eye:	n/a
36	chr15:74726423-74726473	PrEC	prostate:	n/a
37	chr15:74726423-74726473	AG04450	lung:	fetal
38	chr15:74726423-74726473	RPTEC	kidney:	n/a
39	chr15:74726423-74726473	U87	brain:	n/a
40	chr15:74726423-74726473	Hela-S3	cervix:	n/a
41	chr15:74726423-74726473	HNPCEpiC	eye:	n/a
42	chr15:74726423-74726473	AG09319	gingival:	n/a
43	chr15:74726423-74726473	T-47D	breast:	n/a
44	chr15:74726423-74726473	GM19239	blood:	n/a
45	chr15:74726423-74726473	NHDF-neo	bronchial:	n/a
46	chr15:74726423-74726473	AG09309	skin:	n/a
47	chr15:74726423-74726473	HAEpiC	amniotic membrane:	n/a
48	chr15:74726423-74726473	IMR90	lung:	fetal
49	chr15:74726423-74726473	HUVEC	blood vessel:	n/a
50	chr15:74726423-74726473	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74724949..74728351-chr15:74752030..74754909,4	K562	blood:
2	chr11:94300330..94300985-chr15:74726326..74726975,2	NB4	blood:
3	chr12:22777643..22778220-chr15:74725782..74726536,2	NB4	blood:
4	chr15:74725918..74726573-chr6:157802147..157802863,2	HCT-116	colon:
5	chr15:74725986..74726600-chrX:46771960..46772662,2	NB4	blood:
6	chr15:74724949..74727531-chr15:74752948..74755543,2	K562	blood:
7	chr15:74724666..74727655-chr15:74741238..74745335,3	MCF-7	breast:
8	chr15:74725782..74726755-chr17:41465710..41466295,2	NB4	blood:

Variant related genes	Relation type
SEMA7A	TF binding region
SEMA7A	CpG island
ENSG00000257023	Chromatin interaction
ENSG00000175048	Chromatin interaction
ENSG00000134627	Chromatin interaction
ENSG00000102221	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000139163	Chromatin interaction
ENSG00000247240	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12592893	0.89[EUR][1000 genomes]
rs12593390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593898	1.00[CEU][hapmap]
rs12594105	1.00[CEU][hapmap]
rs12594316	1.00[CEU][hapmap]
rs12594462	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12594738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370485	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953854	1.00[CEU][hapmap]
rs16968837	0.96[AFR][1000 genomes]
rs16969770	1.00[CEU][hapmap]
rs28362867	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3184088	1.00[CEU][hapmap]
rs56679513	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57386020	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59390045	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59457315	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59789565	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60419116	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60546922	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61153292	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023274	1.00[CEU][hapmap]
rs8031284	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	nsv904355	chr15:74697084-74728149	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv904356	chr15:74697084-74729603	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv569974	chr15:74701200-74727113	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904360	chr15:74709071-74728149	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv904364	chr15:74709975-74728149	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv904367	chr15:74710125-74728149	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv904368	chr15:74711122-74728149	Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv542433	chr15:74714265-74745033	Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv904371	chr15:74719249-74731330	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	esv3322653	chr15:74724424-74727272	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74723400-74726600	Active TSS	HSMMtube	muscle
2	chr15:74724600-74726600	Active TSS	Brain Angular Gyrus	brain
3	chr15:74724600-74727000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:74724800-74726600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:74724800-74726600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:74724800-74726600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:74725000-74726600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:74725000-74726600	Active TSS	Brain Anterior Caudate	brain
9	chr15:74725000-74726600	Active TSS	Brain Cingulate Gyrus	brain
10	chr15:74725000-74726600	Active TSS	Brain Hippocampus Middle	brain
11	chr15:74725000-74726600	Active TSS	A549	lung
12	chr15:74725000-74726800	Active TSS	Right Ventricle	heart
13	chr15:74725200-74726600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr15:74725200-74726600	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr15:74725200-74726600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:74725200-74726800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:74725200-74726800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:74725200-74726800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr15:74725400-74726600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:74725400-74726600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:74725400-74726600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:74725400-74726600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:74725400-74726600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr15:74725400-74726600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr15:74725400-74726600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr15:74725400-74726600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:74725400-74726600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:74725400-74726600	Active TSS	Duodenum Mucosa	Duodenum
29	chr15:74725400-74726600	Active TSS	Fetal Brain Female	brain
30	chr15:74725400-74726600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr15:74725400-74726800	Active TSS	Ovary	ovary
32	chr15:74725400-74726800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr15:74725600-74726600	Active TSS	Aorta	Aorta
34	chr15:74725600-74726600	Active TSS	Gastric	stomach
35	chr15:74725600-74726600	Active TSS	Left Ventricle	heart
36	chr15:74725600-74726600	Active TSS	Psoas Muscle	Psoas
37	chr15:74725800-74726600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:74725800-74726600	Active TSS	Fetal Kidney	kidney
39	chr15:74725800-74726600	Transcr. at gene 5' and 3'	Right Atrium	heart
40	chr15:74725800-74726800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:74725800-74726800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr15:74726000-74726600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:74726000-74726600	Active TSS	Colon Smooth Muscle	Colon
44	chr15:74726000-74726800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr15:74726200-74726600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:74726200-74726600	Active TSS	Liver	Liver
47	chr15:74726200-74736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:74726400-74726600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:74726400-74726600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr15:74726400-74726600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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